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一名患有斯-韦综合征女孩的面部半侧肥大:口服西罗莫司治疗

Facial hemihypertrophy in a girl with sturge-weber syndrome: Treatment with oral sirolimus.

作者信息

Giacaman Aniza, Salinas Sanz José Antonio, Navarro Noguera Samuel, Lastra Rodríguez Juan, Montis Palos María Concepción, Martín-Santiago Ana

机构信息

Dermatology Department, Hospital Universitari Son Espases, Majorca, Spain.

Pediatric Hematology and Oncology Department, Hospital Universitari Son Espases, Majorca, Spain.

出版信息

Pediatr Dermatol. 2021 Mar;38(2):469-471. doi: 10.1111/pde.14520. Epub 2021 Jan 29.

DOI:10.1111/pde.14520
PMID:33511637
Abstract

In the last few years, the use of oral sirolimus has shown promising results in the treatment of some complex vascular anomalies, and recently, it has been used in patients with Sturge-Weber syndrome (SWS). We present the case of an 11-year-old girl with the diagnosis of SWS and hemifacial overgrowth treated with oral sirolimus. Throughout the eight months of follow-up, improvement of the port-wine birthmark, intraocular pressure, and neurocognitive development was noted. The mTOR inhibitors may be useful in the treatment of some patients with SWS.

摘要

在过去几年中,口服西罗莫司在治疗一些复杂血管异常方面已显示出有前景的结果,并且最近,它已被用于患有斯特奇-韦伯综合征(SWS)的患者。我们报告了一例11岁诊断为SWS并伴有面部半侧肥大的女孩,其接受口服西罗莫司治疗。在整个八个月的随访中,观察到葡萄酒色斑、眼压和神经认知发育均有改善。mTOR抑制剂可能对一些SWS患者的治疗有用。

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